A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946038



Internal ID18246202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:85506880..85540148hg38UCSC Ensembl
Innerchr1:85972563..86005831hg19UCSC Ensembl
Innerchr1:85745151..85778419hg18UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3833269
hg1933269
hg1833269
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1773796, nssv1773791, nssv1773788, nssv1773793, nssv1773790, nssv1773794, nssv1773787, nssv1773792, nssv1773795, nssv1773789
SamplesHGDP00927, HGDP00778, HGDP00542, HGDP01029, HGDP01284, HGDP00521, HGDP00998, HGDP00456, HGDP01307, HGDP00665
Known GenesDDAH1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946038
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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